Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.Y693C

FLT3

2,401 papers

RefSeq Summary

This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, whic...

Pfam Domains

igaa 258–343UCSCImmunoglobulin domain
PK_Tyr_Ser-Thraa 610–943UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fms related receptor tyrosine kinase 3

HGNC Alias Symbols

FLK2; CD135

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_004119.3
p.Y693C
c.2078A>G
Surrounding Variants
1 paper
NM_004119.3
p.Y693F
c.2078A>T
1 paper
NM_004119.3
p.Y693S
c.2078A>C
3 papers
NM_004119.3
p.Y693N
c.2077T>A
1 paper
NM_004119.3
p.Y693Y
c.2079C>T
2 papers
NM_004119.3
p.C694S
c.2080T>A
1 paper
NM_004119.3
p.E692D
c.2076A>T
2 papers
NM_004119.3
p.C694S
c.2081G>C
1 paper
NM_004119.3
p.E692G
c.2075A>G
1 paper
NM_004119.3
p.E692insFs
c.2074_2075insGG
6 papers
NM_004119.3
p.C694C
c.2082T>C
2 papers
NM_004119.3
p.E692Q
c.2074G>C
1 paper
NM_004119.3
p.E692K
c.2074G>A
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